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https://www.readbyqxmd.com/read/29786810/-epilepsy-and-comorbid-neurodevelopmental-disorders
#1
Viviann Nordin, Ingrid B Olsson, Torbjörn Tomson
In children and adults with epilepsy, it is important to be aware of and diagnose common comorbidities that may have a large impact on quality of life. Comorbid neurodevelopmental disorders include intellectual disability, autism, and attention deficit hyperactivity disorder (ADHD). Depression and anxiety are common findings, and also the risk of psychosis is increased. The medication used to treat these comorbidities is found to be effective with little risks of seizure exacerbation, i.e. medication with methylphenidate, selective serotonin reuptake inhibitors (SSRIs) and second generation neuroleptics...
May 22, 2018: Läkartidningen
https://www.readbyqxmd.com/read/29778029/late-onset-childhood-neuronal-ceroid-lipofuscinosis-early-clinical-and-electroencephalographic-markers
#2
Lucas Beltrán, Gabriela Reyes Valenzuela, Mariana Loos, Rodrigo Vargas, Rafael Lizama, Pablo Spinsanti, Roberto Caraballo
PURPOSE: The objective of the study was to describe the initial clinical and electroencephalographic findings in children with late-infantile neuronal ceroid lipofuscinosis (LINCL). METHOD: The clinical charts of 35 patients seen between 1990 and 2016 were reviewed. The patients were divided into two groups: Group 1 (G1) consisting of 12 patients with NCL type 2 (CLN2) disease confirmed by enzymatic activity in dried blood spots on filter paper and/or genetic studies, and Group 2 (G2) consisting of 23 patients with a diagnosis of LINCL based on pathology studies by muscle biopsy...
May 15, 2018: Epilepsy Research
https://www.readbyqxmd.com/read/29774303/myotonia-permanens-with-nav1-4-g1306e-displays-varied-phenotypes-during-course-of-life
#3
Frank Lehmann-Horn, Adele D'Amico, Enrico Bertini, Mauro Lomonaco, Luciano Merlini, Kevin R Nelson, Heike Philippi, Gabriele Siciliano, Frank Spaans, Karin Jurkat-Rott
Introduction: Myotonia permanens due to Nav1.4-G1306E is a rare sodium channelopathy with potentially life-threatening respiratory complications. Our goal was to study phenotypic variability throughout life. Methods: Clinical neurophysiology and genetic analysis were performed. Using existing functional expression data we determined the sodium window by integration. Results: In 10 unrelated patients who were believed to have epilepsy, respiratory disease or Schwartz-Jampel syndrome, we made the same prima facie diagnosis and detected the same heterologous Nav1...
September 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/29770251/review-of-the-neurological-benefits-of-phytocannabinoids
#4
REVIEW
Joseph Maroon, Jeff Bost
Background: Numerous physical, psychological, and emotional benefits have been attributed to marijuana since its first reported use in 2,600 BC in a Chinese pharmacopoeia. The phytocannabinoids, cannabidiol (CBD), and delta-9-tetrahydrocannabinol (Δ9-THC) are the most studied extracts from cannabis sativa subspecies hemp and marijuana. CBD and Δ9-THC interact uniquely with the endocannabinoid system (ECS). Through direct and indirect actions, intrinsic endocannabinoids and plant-based phytocannabinoids modulate and influence a variety of physiological systems influenced by the ECS...
2018: Surgical Neurology International
https://www.readbyqxmd.com/read/29769525/asynchronous-suppression-of-visual-cortex-during-absence-seizures-in-stargazer-mice
#5
Jochen Meyer, Atul Maheshwari, Jeffrey Noebels, Stelios Smirnakis
Absence epilepsy is a common childhood disorder featuring frequent cortical spike-wave seizures with a loss of awareness and behavior. Using the calcium indicator GCaMP6 with in vivo 2-photon cellular microscopy and simultaneous electrocorticography, we examined the collective activity profiles of individual neurons and surrounding neuropil across all layers in V1 during spike-wave seizure activity over prolonged periods in stargazer mice. We show that most (~80%) neurons in all cortical layers reduce their activity during seizures, whereas a smaller pool activates or remains neutral...
May 16, 2018: Nature Communications
https://www.readbyqxmd.com/read/29763708/pcdh19-regulation-of-neural-progenitor-cell-differentiation-suggests-asynchrony-of-neurogenesis-as-a-mechanism-contributing-to-pcdh19-girls-clustering-epilepsy
#6
Claire C Homan, Stephen Pederson, Thu-Hien To, Chuan Tan, Sandra Piltz, Mark Corbett, Ernst Wolvetang, Paul Thomas, Lachlan A Jolly, Jozef Gecz
PCDH19-Girls Clustering Epilepsy (PCDH19-GCE) is a childhood epileptic encephalopathy characterised by a spectrum of neurodevelopmental problems. PCDH19-GCE is caused by heterozygous loss-of-function mutations in the X-chromosome gene, Protocadherin 19 (PCDH19) encoding a cell-cell adhesion molecule. Intriguingly, hemizygous males are generally unaffected. As PCDH19 is subjected to random X-inactivation, heterozygous females are comprised of a mosaic of cells expressing either the normal or mutant allele, which is thought to drive pathology...
May 12, 2018: Neurobiology of Disease
https://www.readbyqxmd.com/read/29754261/compound-heterozygous-mutations-in-two-different-domains-of-aldh18a1-do-not-affect-the-amino-acid-levels-in-a-patient-with-hereditary-spastic-paraplegia
#7
Maria Steenhof, Maria Kibæk, Martin J Larsen, Mette Christensen, Allan Meldgaard Lund, Klaus Brusgaard, Jens Michael Hertz
Mutations in ALDH18A1 can cause autosomal recessive and dominant hereditary spastic paraplegia and autosomal recessive and dominant cutis laxa. ALDH18A1 encodes delta-1-pyrroline-5-carboxylate synthetase (P5CS), which consists of two domains, the glutamate 5-kinase (G5K) and the gamma-glutamyl phosphate reductase (GR5P) domain. The location of the mutations in the gene has influence on whether the amino acid levels are affected. Mutations affecting the G5K domain have previously been found to cause reduced plasma levels of proline, citrulline and arginine, whereas such effect is not seen with mutations affecting the GR5P domain...
May 12, 2018: Neurogenetics
https://www.readbyqxmd.com/read/29745359/contribution-of-family-relatedness-to-neurobehavioral-comorbidities-in-idiopathic-childhood-epilepsies
#8
Dace N Almane, Qianqian Zhao, Paul J Rathouz, Melissa Hanson, Daren C Jackson, David A Hsu, Carl E Stafstrom, Jana E Jones, Michael Seidenberg, Monica Koehn, Bruce P Hermann
OBJECTIVES: Rates of cognitive, academic and behavioral comorbidities are elevated in children with epilepsy. The contribution of environmental and genetic influences to comorbidity risk is not fully understood. This study investigated children with epilepsy, their unaffected siblings, and controls to determine the presence and extent of risk associated with family relatedness across a range of epilepsy comorbidities. METHODS: Participants were 346 children (8-18 years), n=180 with recent-onset epilepsy, their unaffected siblings (n=67), and healthy first-degree cousin controls (n=99)...
May 10, 2018: Journal of the International Neuropsychological Society: JINS
https://www.readbyqxmd.com/read/29739701/early-identification-of-epileptic-encephalopathy-with-continuous-spikes-and-waves-during-sleep-a-case-control-study
#9
Camille Desprairies, Blandine Dozières-Puyravel, Adina Ilea, Vanina Bellavoine, Hala Nasser, Catherine Delanöe, Stéphane Auvin
Epileptic encephalopathy with continuous spikes-and-waves during sleep (EE-CSWS) is a rare childhood epilepsy syndrome characterized by a regression in cognitive, behavioral and psychiatric functioning, seizures and a specific electroencephalographic pattern. An early recognition and an appropriate treatment might play a key role in the outcome of this epileptic encephalopathy. We conducted a case-control study to evaluate if there is any clinical or electroencephalographic sign suggestive of EE-CSWS after the first seizure...
April 27, 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29730501/language-skills-in-children-with-benign-childhood-epilepsy-with-centrotemporal-spikes-a-systematic-review
#10
REVIEW
Joana Teixeira, Maria Emília Santos
Benign childhood epilepsy with centrotemporal spikes (BECTS) is the epileptic syndrome that most affects preschool and school-age children. Despite being usually considered a benign condition, several studies have shown that this epileptic syndrome is responsible for cognitive morbidities in children, namely at the level of attention and memory, as well as language. However, language disorders are still superficially addressed by the literature. This review aimed to compile and synthesize recent literature in this area...
May 3, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29720545/multifocal-demyelinating-motor-neuropathy-and-hamartoma-syndrome-associated-with-a-de-novo-pten-mutation
#11
Boglarka Bansagi, Vietxuan Phan, Mark R Baker, Julia O'Sullivan, Matthew J Jennings, Roger G Whittaker, Juliane S Müller, Jennifer Duff, Helen Griffin, James A L Miller, Grainne S Gorman, Hanns Lochmüller, Patrick F Chinnery, Andreas Roos, Laura E Swan, Rita Horvath
OBJECTIVE: To describe a patient with a multifocal demyelinating motor neuropathy with onset in childhood and a mutation in phosphatase and tensin homolog ( PTEN ), a tumor suppressor gene associated with inherited tumor susceptibility conditions, macrocephaly, autism, ataxia, tremor, and epilepsy. Functional implications of this protein have been investigated in Parkinson and Alzheimer diseases. METHODS: We performed whole-exome sequencing in the patient's genomic DNA validated by Sanger sequencing...
May 2, 2018: Neurology
https://www.readbyqxmd.com/read/29720203/detection-rate-of-causal-variants-in-severe-childhood-epilepsy-is-highest-in-patients-with-seizure-onset-within-the-first-four-weeks-of-life
#12
David Staněk, Petra Laššuthová, Katalin Štěrbová, Markéta Vlčková, Jana Neupauerová, Marcela Krůtová, Pavel Seeman
BACKGROUND: Epilepsy is a heterogeneous disease with a broad phenotypic spectrum and diverse genotypes. A significant proportion of epilepsies has a genetic aetiology. In our study, a custom designed gene panel with 112 genes known to be associated with epilepsies was used. In total, one hundred and fifty-one patients were tested (86 males / 65 females). RESULTS: In our cohort, the highest probability for the identification of the cause of the disease was for patients with a seizure onset within the first four weeks of life (61...
May 2, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29705726/trends-in-epilepsy-admissions-in-children-1981-2013-population-based-observational-study-using-the-scottish-national-hospital-discharge-database
#13
Richard F M Chin, Jacqueline Stephen, Christopher J Weir, Rachael Wood
OBJECTIVE: To examine trends in epilepsy admissions in children from 1981 to 2013. DESIGN: Repeated cross-sectional, population-based study. SETTING: Scotland. PATIENTS: We identified admissions among children between 1981 and 2013 inclusive. Epilepsy admissions were identified from the Scottish national hospital discharge database by using relevant diagnostic codes. Primary epilepsy admissions (PEAs) were those with epilepsy as the primary discharge diagnosis, or convulsions as the primary diagnosis but with epilepsy as secondary diagnosis...
April 28, 2018: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/29705622/impact-of-resective-epilepsy-surgery-on-health-related-quality-of-life-in-children-with-and-without-low-intellectual-ability
#14
Lauryn Conway, Elysa Widjaja, Mary Lou Smith
OBJECTIVE: The current study examined pre- and postoperative health-related quality of life (HRQL) across children with and without low intellectual ability. We also aimed to clarify the literature on postsurgical change by assessing domain-specific HRQL pre- and postoperatively in children with drug-resistant epilepsy. METHOD: All patients (n=111) underwent resective epilepsy surgery between 1996 and 2016 at the Hospital for Sick Children in Toronto, comparing baseline and 1-year follow-up HRQL with the Quality of Life in Childhood Epilepsy Questionnaire (QOLCE-76)...
April 26, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29686574/urinary-urge-seizure-semiology-localization-by-intracranial-monitoring
#15
Ronak Rengarajan, Sadat Shamim
Seizures may present with many different symptom complexes. Seizure semiologies have localization value when contemplating surgical therapies. Epilepsy presenting as a desire to micturate is exceedingly rare, with only a handful of published cases. We present a patient who had initially unexplained childhood urinary urge that progressed into lapses of memory and confusion that was eventually diagnosed as epilepsy in adulthood. Due to refractoriness to medical management, our patient's epileptic focus was localized through both noninvasive and invasive subdural electrode arrays to the nondominant medial temporal lobe and successfully treated with an amygdalohippocampectomy...
January 2018: Proceedings of the Baylor University Medical Center
https://www.readbyqxmd.com/read/29686177/bilateral-giant-renal-angiomyolipoma-in-a-patient-with-tuberous-sclerosis-complex-a-case-report
#16
Andika Afriansyah, Abdul M Yusuf, Harry Nusaly
Tuberous sclerosis complex (TSC) has several renal manifestations including angiomyolipomas (AML) and renal epithelial neoplasms. A bilateral giant renal AML is extremely rare. We report a case of giant bilateral AML and discuss the diagnosis and treatment of it. The 22-year-old man was admitted due to bilateral flank pain, gross hematuria, and abdominal fullness. He had history of epilepsy, mental retardation, and delayed development during childhood. He had angiofibroma on his face since 10 years ago. Abdominal CT and MRI revealed large lobulated heterogeneous mass with fatty content...
January 2018: Acta Medica Indonesiana
https://www.readbyqxmd.com/read/29677576/early-mortality-in-scn8a-related-epilepsies
#17
Katrine M Johannesen, Elena Gardella, Ingrid Scheffer, Katherine Howell, Douglas M Smith, Ingo Helbig, Rikke S Møller, Guido Rubboli
SCN8A-related epilepsies are often severe developmental and epileptic encephalopathies. Seizures can be treatment resistant, and patients suffer from severe intellectual disability. Reports have suggested that SCN8A-related epilepsies have a high mortality with SUDEP as the major underlying cause. SUDEP is a catastrophic event, and the risk of occurrence should be correctly and carefully discussed with patients and families. We tested the hypothesis of SUDEP as the main cause of death in SCN8A-related epilepsies by reviewing all the currently reported patients with SCN8A...
July 2018: Epilepsy Research
https://www.readbyqxmd.com/read/29670485/behavior-problems-in-childhood-absence-epilepsy-a-chicken-or-egg-problem
#18
COMMENT
Jay Salpekar
No abstract text is available yet for this article.
March 2018: Epilepsy Currents
https://www.readbyqxmd.com/read/29669615/risk-of-neurological-eye-and-ear-disease-in-offspring-to-parents-with-schizophrenia-or-depression-compared-with-offspring-to-healthy-parents
#19
Elin Dianna Gunnarsdóttir, Jonas Hällgren, Christina M Hultman, Thomas F McNeil, Milita Crisby, Sven Sandin
BACKGROUND: Neurological, visual and hearing deviations have been observed in the offspring of parents with schizophrenia. This study test whether children to parents hospitalized with schizophrenia have increased the likelihood of childhood neurological disorder. METHODS: Among all parents in Sweden born 1950-1985 and with offspring born 1968-2002: 7107 children with a parent hospitalized for schizophrenia were compared to 172 982 children with no parents hospitalized for schizophrenia or major depression, as well as to 32 494 children with a parent hospitalized for major depression as a control population with another severe psychiatric outcome...
April 19, 2018: Psychological Medicine
https://www.readbyqxmd.com/read/29665529/electroclinical-characteristics-and-syndromic-associations-of-eye-condition-related-visual-sensitive-epilepsies-a-cross-sectional-study
#20
Kalyani Dilip Karkare, Ramshekhar N Menon, Ashalatha Radhakrishnan, Ajith Cherian, Sanjeev V Thomas
PURPOSE: The systematic study of visual phenomena such as eye closure (ECLS), eye-closed/fixation-off sensitivity (FOS) [terminology proposed as eye-condition sensitive (ECS) epilepsy] distinct from photosensitivity is rarely explored in literature. METHODS: Clinical, electroencephalographic (EEG) and imaging records of patients attending an epilepsy clinic were screened. Inclusion criterion was demonstrable electrographic visual sensitivitiy in the form of ECS parameters with/without photosensitivity...
March 30, 2018: Seizure: the Journal of the British Epilepsy Association
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